Varaico: Literature-Extracted Genetic Variants

UBR4

296 papers

RefSeq Summary

The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The enco...

Pfam Domains

E3_UBR4_Naa 69–1650UCSCE3 ubiquitin-protein ligase UBR4 N-terminal

zf-UBRaa 1661–1726UCSCPutative zinc finger in N-recognin (UBR box)

UBR4aa 3711–3835UCSCE3 ubiquitin-protein ligase UBR4-like domain

E3_UbLigase_R4aa 4367–5163UCSCE3 ubiquitin-protein ligase UBR4

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 4

HGNC Previous Symbol

ZUBR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020765.3

p.L1013F

c.3039A>C

Surrounding Variants

1 paper

NM_020765.3

p.L1013F

c.3039A>T

1 paper

NM_020765.3

p.S1024F

c.3071C>T

1 paper

NM_020765.3

p.N1026I

c.3077A>T

1 paper

NM_020765.3

p.E1032G

c.3095A>G

1 paper

NM_020765.3

p.E1032D

c.3096A>T

1 paper

NM_020765.3

p.E1032D

c.3096A>C

1 paper

NM_020765.3

p.R1040*

c.3118C>T

1 paper

NM_020765.3

p.R1046Q

c.3137G>A

1 paper

NM_020765.3

p.W1053R

c.3157T>C

1 paper

NM_020765.3

p.W1053R

c.3157T>A

1 paper

NM_020765.3

p.K1060T

c.3179A>C

1 paper

NM_020765.3

p.G1062G

c.3186A>C